Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Arrdc5'

422960

Institutional Source

Beutler Lab

Gene Symbol

Arrdc5

Ensembl Gene

ENSMUSG00000073380

Gene Name

arrestin domain containing 5

Synonyms

1700013E09Rik

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56294113-56300286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56300138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 36 (V36M)

Ref Sequence

ENSEMBL: ENSMUSP00000094906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000097303] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039] [ENSMUST00000142387]

AlphaFold

Q497K5

Predicted Effect

probably benign
Transcript: ENSMUST00000001258

SMART Domains

Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	322	369	6.39e-12	SMART
RING	323	368	1.09e0	SMART
low complexity region	381	398	N/A	INTRINSIC
SRA	419	590	8.5e-113	SMART
low complexity region	635	653	N/A	INTRINSIC
RING	713	751	8.43e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097303
AA Change: V36M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
AA Change: V36M

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	144	3.3e-21	PFAM
Arrestin_C	170	307	7.47e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113035

SMART Domains

Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	314	361	6.39e-12	SMART
RING	315	360	1.09e0	SMART
low complexity region	373	390	N/A	INTRINSIC
SRA	411	582	8.5e-113	SMART
low complexity region	627	645	N/A	INTRINSIC
RING	705	743	8.43e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113038

SMART Domains

Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	314	361	6.39e-12	SMART
RING	315	360	1.09e0	SMART
low complexity region	373	390	N/A	INTRINSIC
SRA	411	582	8.5e-113	SMART
low complexity region	627	645	N/A	INTRINSIC
RING	705	743	8.43e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113039

SMART Domains

Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:TTD	128	281	8e-61	PFAM
PHD	322	369	6.39e-12	SMART
RING	323	368	1.09e0	SMART
low complexity region	381	398	N/A	INTRINSIC
SRA	419	590	8.5e-113	SMART
low complexity region	635	653	N/A	INTRINSIC
RING	713	751	8.43e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142387

SMART Domains

Protein: ENSMUSP00000125830
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Arrdc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Arrdc5	APN	17	56294262	missense	probably damaging	1.00
IGL01830:Arrdc5	APN	17	56294652	missense	probably damaging	0.99
IGL01861:Arrdc5	APN	17	56300144	missense	possibly damaging	0.78
IGL02210:Arrdc5	APN	17	56300026	missense	probably damaging	1.00
IGL03379:Arrdc5	APN	17	56294589	nonsense	probably null
R0256:Arrdc5	UTSW	17	56294382	missense	probably damaging	0.99
R0638:Arrdc5	UTSW	17	56300020	missense	possibly damaging	0.94
R1491:Arrdc5	UTSW	17	56294222	missense	probably damaging	0.99
R1672:Arrdc5	UTSW	17	56300144	missense	possibly damaging	0.78
R2094:Arrdc5	UTSW	17	56297856	missense	probably benign	0.44
R4326:Arrdc5	UTSW	17	56294420	missense	possibly damaging	0.92
R4327:Arrdc5	UTSW	17	56294420	missense	possibly damaging	0.92
R5254:Arrdc5	UTSW	17	56297897	missense	probably benign	0.19
R5610:Arrdc5	UTSW	17	56297846	missense	probably benign
R5740:Arrdc5	UTSW	17	56297838	missense	probably benign	0.39
R6054:Arrdc5	UTSW	17	56294420	missense	possibly damaging	0.92
R7101:Arrdc5	UTSW	17	56294522	missense	probably damaging	1.00
R7439:Arrdc5	UTSW	17	56297931	missense	probably benign	0.05
R8878:Arrdc5	UTSW	17	56294342	missense	probably benign	0.00
Z1176:Arrdc5	UTSW	17	56300189	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAGATGGATTTACTTTCCCACCC -3'
(R):5'- AACATTGGGTGGAGCGATGTC -3'

Sequencing Primer
(F):5'- CCAGGCCGAATGCTTACC -3'
(R):5'- GCGATGTCACAGAGGACACC -3'

Posted On

2016-08-04